Variant report

Variant	esv3353599
Chromosome Location	chr14:104680903-104683469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104646912..104648600-chr14:104679599..104681696,2	MCF-7	breast:

Extended variants
information (count: 152 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10141973	chr14:104680936-104680937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539041382	chr14:104680958-104680959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138763366	chr14:104681002-104681003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569148735	chr14:104681132-104681133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538370837	chr14:104681140-104681141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554745150	chr14:104681143-104681144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186535669	chr14:104681148-104681149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10133496	chr14:104681161-104681162	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs56176138	chr14:104681180-104681181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201693392	chr14:104681190-104681191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199767044	chr14:104681214-104681215	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs111531721	chr14:104681241-104681242	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs61996656	chr14:104681263-104681264	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576773797	chr14:104681324-104681325	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs201550149	chr14:104681326-104681327	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191350524	chr14:104681338-104681339	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113497324	chr14:104681351-104681352	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs562535298	chr14:104681365-104681366	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113871445	chr14:104681383-104681384	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs531184249	chr14:104681392-104681393	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112300133	chr14:104681406-104681407	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200290980	chr14:104681416-104681417	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs578074476	chr14:104681434-104681435	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111174240	chr14:104681438-104681439	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111174241	chr14:104681444-104681445	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145863682	chr14:104681476-104681477	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541929051	chr14:104681482-104681483	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs371029213	chr14:104681489-104681490	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111063712	chr14:104681508-104681509	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs111172660	chr14:104681515-104681516	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111164367	chr14:104681523-104681524	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs368706693	chr14:104681531-104681532	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs553960469	chr14:104681547-104681548	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs372245737	chr14:104681552-104681553	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs199864473	chr14:104681572-104681573	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs111217085	chr14:104681574-104681575	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs111861101	chr14:104681581-104681582	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs367986637	chr14:104681588-104681589	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs201568274	chr14:104681596-104681597	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs199668835	chr14:104681600-104681601	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141383435	chr14:104681614-104681615	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111172661	chr14:104681622-104681623	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62639543	chr14:104681628-104681629	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117028540	chr14:104681632-104681633	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62644849	chr14:104681638-104681639	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200208414	chr14:104681648-104681649	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201293355	chr14:104681663-104681664	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139237606	chr14:104681667-104681668	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530329503	chr14:104681675-104681676	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111206900	chr14:104681690-104681691	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104677000-104681800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:104677800-104685000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:104680400-104681200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:104680400-104681600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:104681000-104681400	Enhancers	Fetal Intestine Small	intestine
6	chr14:104681200-104681400	Enhancers	Duodenum Mucosa	Duodenum
7	chr14:104681200-104682000	Bivalent/Poised TSS	Gastric	stomach
8	chr14:104681200-104682200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:104681600-104681800	Enhancers	Spleen	Spleen
10	chr14:104681600-104682000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:104681800-104682000	ZNF genes & repeats	Pancreas	Pancrea
12	chr14:104681800-104682200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:104682000-104682200	Active TSS	Gastric	stomach
14	chr14:104682000-104684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:104682000-104688400	Weak transcription	Pancreas	Pancrea
16	chr14:104682200-104684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:104682400-104682600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:104682800-104683000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:104682800-104683000	Bivalent Enhancer	Fetal Stomach	stomach

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